ATP5MF-PTCD1

Chr 7

ATP5MF-PTCD1 readthrough

Also known as: ATP5J2-PTCD1

NCBI Gene: 100526740ENSG00000248919

This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]

0
Active trials
18
Pathogenic / LP
143
ClinVar variants
0
Pubs (1 yr)
-0.6
Missense Z
1.15
LOEUF
Clinical Summary— ATP5MF-PTCD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 103 VUS of 143 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.15LOEUF
pLI 0.000
Z-score 0.92
OE 0.82 (0.59–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.56Z-score
OE missense 1.08 (1.00–1.16)
466 obs / 433.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.82 (0.59–1.15)
0≤0.351.4
Missense OE1.08 (1.00–1.16)
0≤0.61.4
Synonymous OE1.19
0≤1.21.6
LoF obs/exp: 24 / 29.4Missense obs/exp: 466 / 433.2Syn Z: -2.09

ClinVar Variant Classifications

143 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic1
VUS103
Likely Benign15
Benign7
17
Pathogenic
1
Likely Pathogenic
103
VUS
15
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
1
0
1
VUS
0
94
9
0
103
Likely Benign
0
13
1
1
15
Benign
0
2
0
5
7
Total0109286143

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

ATP5MF-PTCD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients